Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Leu490Arg (p.L490R)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Leu490Arg (p.L490R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- hemochromatosis
- Source Database
- DisGeNET
- Description
- Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
- Pubmed
- 15749661
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.145860379674339
- Year of publication
- 2005
Drugs